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Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion

Abstract : A girl, born with a posterior lumbosacral giant congenital nevus, developed a central nodule that expanded over a period of 14 months into a 10-cm pedunculated mass. Histological analysis of the mass revealed melanoma of myxoid, small round-cell type with areas of rhabdomyosarcomatous transformation confirmed by immunohistochemistry. RNA sequencing identified an in-frame SASS6(e14)-RAF1(e8) fusion in both components and the nevus. A RAF1 FISH break-apart test found a balanced rearrangement pattern in the nevus and an unbalanced pattern in the malignant areas. Wild-type status of NRAS and BRAF was confirmed by NGS techniques. The array-CGH profile displayed copy number alterations commonly found in rhabdomyosarcomas. Despite intensive treatment, widespread metastatic evolution of the melanomatous component was observed.
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https://www.hal.inserm.fr/inserm-02440645
Contributor : Franck Tirode <>
Submitted on : Wednesday, January 15, 2020 - 11:55:16 AM
Last modification on : Wednesday, August 19, 2020 - 11:18:00 AM

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Aline Baltres, Aicha Salhi, Aurelie Houlier, Daniel Pissaloux, Franck Tirode, et al.. Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion. Pigment Cell & melanoma research, Blackwell Munksgaard, 2019, 32 (5), pp.708-713. ⟨10.1111/pcmr.12785⟩. ⟨inserm-02440645⟩

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